ClinVar Genomic variation as it relates to human health
NC_000013.11:g.(?_20141961)_(20824841_?)del
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
GJB2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
556 | 619 | |
GJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
192 | 273 | |
CRYL1 | - | - |
GRCh38 GRCh37 |
104 | 198 | |
EEF1AKMT1 | - | - |
GRCh38 GRCh37 |
1 | 51 | |
GJA3 | - | - |
GRCh38 GRCh37 |
207 | 265 | |
IFT88 | - | - |
GRCh38 GRCh37 |
418 | 473 | |
IL17D | - | - |
GRCh38 GRCh37 |
11 | 72 | |
XPO4 | - | - |
GRCh38 GRCh37 |
39 | 91 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 13, 2019 | RCV001031192.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023